| IPIAccessionNumber Ensembl GeneID OmimID Omim disease description IPI00301099.1 ENSG00000049540.5 130160 "Williams-Beuren syndrome, 194050 (3)" IPI00156793.1 ENSG00000154767.2 278720 "Xeroderma pigmentosum, group C (3)" IPI00295976.1 ENSG00000005961.6 273800 "Glanzmann thrombasthenia, type A (3)" IPI00300573.1 ENSG00000133805.4 102772 "[AMP deaminase deficiency, erythrocytic] (3)" IPI00013404.1 ENSG00000141646.3 600993 Pancreatic cancer (3) IPI00012391.1 ENSG00000134982.2 175100 "Desmoid disease, hereditary, 135290 (3)" IPI00013929.1 ENSG00000071564.4 147141 "Leukemia, acute lymphoblastic (1)" IPI00021885.1 ENSG00000171560.2 134820 "Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3)" IPI00005541.1 ENSG00000064933.3 600258 "Colorectal cancer, hereditary nonpolyposis, type 3 (3)" IPI00329775.1 ENSG00000080618.2 212070 Carboxypeptidase B deficiency (1) IPI00299162.1 ENSG00000175097.1 179616 "Severe combined immunodeficiency, B cell-negative, 601457 (3)" IPI00329789.1 ENSG00000115085.3 176947 Selective T-cell defect (3) IPI00029739.1 ENSG00000000971.4 134370 Factor H deficiency (1) IPI00013193.1 ENSG00000137474.4 276903 "Deafness, autosomal dominant 11, neurosensory, 601317 (3)" IPI00029107.1 ENSG00000165392.4 277700 Werner syndrome (3) IPI00301099.1 ENSG00000049540.5 130160 "Supravalvar aortic stenosis, 185500 (3)" IPI00017303.1 ENSG00000095002.1 120435 "Muir-Torre syndrome, 158320 (3)" IPI00306961.1 ENSG00000125124.1 209900 Bardet-Biedl syndrome 2 (2) IPI00018879.1 ENSG00000127415.3 252800 Mucopolysaccharidosis Is (3) IPI00003983.1 ENSG00000010610.1 186940 [CD4(+) lymphocyte deficiency] (2) IPI00013928.1 ENSG00000112619.1 179605 "Retinitis pigmentosa-7, peripherin-related (3)" IPI00022361.1 ENSG00000004939.4 109270 "Renal tubular acidosis, distal, 179800 (3)" IPI00009866.1 ENSG00000171401.4 148065 "White sponge nevus, 193900 (3)" IPI00220317.1 ENSG00000101868.2 312040 "N syndrome, 310465 (1) (?)" IPI00220109.1 ENSG00000085224.6 300032 "Juberg-Marsidi syndrome, 309590 (3)" IPI00216271.1 ENSG00000122126.4 309000 Lowe syndrome (3) IPI00021854.1 ENSG00000158874.1 107670 Apolipoprotein A-II deficiency (3) IPI00011174.1 ENSG00000011201.3 308700 Kallmann syndrome (3) IPI00293563.1 ENSG00000133256.2 180072 "Night blindness, congenital stationary, type 3, 163500 (3)" IPI00290116.1 ENSG00000179142.1 124080 CMO II deficiency (3) IPI00009792.1 ENSG00000130076.7 147020 "Agammaglobulinemia, 601495 (3)" IPI00027492.1 ENSG00000131979.4 600225 "Phenylketonuria, atypical, due to GCH1 deficiency, 233910 (1)" IPI00291997.1 ENSG00000104313.4 601653 Branchiootic syndrome (3) IPI00027174.1 ENSG00000068078.5 134934 Crouzon syndrome with acanthosis nigricans (3) IPI00169383.1 ENSG00000102144.2 311800 Hemolytic anemia due to PGK deficiency (3) IPI00010651.1 ENSG00000049319.1 264600 Pseudovaginal perineoscrotal hypospadias (3) IPI00022361.1 ENSG00000004939.4 109270 "Spherocytosis, hereditary (3)" IPI00293057.1 ENSG00000080618.2 212070 Carboxypeptidase B deficiency (1) IPI00024107.1 ENSG00000145335.5 163890 "Parkinson disease, type 1, 601508 (3)" IPI00000914.1 ENSG00000110680.4 114130 Osteoporosis (3) IPI00303313.1 ENSG00000130635.5 120215 "Ehlers-Danlos syndrome, type II, 130010 (3)" IPI00028160.1 ENSG00000149397.2 176000 "Porphyria, acute intermittent (3)" IPI00026885.1 ENSG00000144891.7 106165 "Hypertension, essential, 145500 (3)" IPI00022296.1 ENSG00000157404.3 164920 Piebaldism (3) IPI00027174.1 ENSG00000068078.5 134934 "Achondroplasia, 100800 (3)" IPI00022392.1 ENSG00000173372.5 120550 "C1q deficiency, type A (3)" IPI00022395.1 ENSG00000113600.1 120940 C9 deficiency (3) IPI00165243.1 ENSG00000130076.7 147020 "Agammaglobulinemia, 601495 (3)" IPI00018219.1 ENSG00000120708.3 601692 "Corneal dystrophy, Avellino type (3)" IPI00218845.1 ENSG00000164867.2 163729 "Hypertension, pregnancy-induced (2)" IPI00020036.1 ENSG00000101204.4 118504 "Epilepsy, benign neonatal, type 1, 121200 (3)" IPI00307209.1 ENSG00000111537.3 147570 "Interferon, immune, deficiency (1)" IPI00019471.1 ENSG00000169047.2 147545 "Diabetes mellitus, noninsulin-dependent (3)" IPI00021518.1 ENSG00000134574.3 600811 "Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)" IPI00022432.1 ENSG00000118271.1 176300 "Carpal tunnel syndrome, familial (3)" IPI00022331.1 ENSG00000103080.1 245900 Norum disease (3) IPI00022200.1 ENSG00000163359.4 120250 "Bethlem myopathy, 158810 (3)" IPI00023765.1 ENSG00000158813.4 305100 Anhidrotic ectodermal dysplasia (2) IPI00218730.1 ENSG00000132915.1 180071 "Retinitis pigmentosa, autosomal recessive (3)" IPI00012912.1 ENSG00000157184.2 600650 "Myopathy due to CPT II deficiency, 255110 (3)" IPI00020036.1 ENSG00000101204.4 118504 "Epilepsy, nocturnal frontal lobe, 600513 (3)" IPI00002707.1 ENSG00000021574.4 182601 Spastic paraplegia-4 (3) IPI00027174.1 ENSG00000068078.5 134934 "Thanatophoric dysplasia, types I and II, 187600 (3)" IPI00012891.1 ENSG00000156873.6 172471 "Glycogenosis, hepatic, autosomal (3)" IPI00032220.1 ENSG00000135744.1 106150 "Preeclampsia, susceptibility to (3)" IPI00010697.1 ENSG00000091409.5 147556 "Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)" IPI00019568.1 ENSG00000180210.3 176930 Dysprothrombinemia (3) IPI00012391.1 ENSG00000134982.2 175100 "Adenomatous polyposis coli, attenuated (3)" IPI00017303.1 ENSG00000095002.1 120435 "Colorectal cancer, hereditary, nonpolyposis, type 1 (3) Ovarian cancer (3)" IPI00013976.1 ENSG00000091136.3 150240 "Cutis laxa, marfanoid neonatal type (1) (?)" IPI00021842.1 ENSG00000130203.2 107741 "Hyperlipoproteinemia, type III (3)" IPI00012391.1 ENSG00000134982.2 175100 Adenomatous polyposis coli (3) IPI00021817.1 ENSG00000115718.5 176860 Thrombophilia due to protein C deficiency (3) IPI00021841.1 ENSG00000118137.2 107680 "Hypertriglyceridemia, one form (3)" IPI00023339.1 ENSG00000005339.2 600140 "Rubenstein-Taybi syndrome, 180849 (3)" IPI00299040.1 ENSG00000118762.1 173910 "Polycystic kidney disease, adult, type II (3)" IPI00022043.1 ENSG00000165699.1 191100 Tuberous sclerosis-1 (3) IPI00032875.1 ENSG00000171503.2 231675 "Glutaricaciduria, type IIC (3)" IPI00298828.1 ENSG00000091583.2 138700 [Apolipoprotein H deficiency] (3) IPI00006196.1 ENSG00000137497.8 164009 "Leukemia, acute promyelocytic, NUMA/RARA type (3)" IPI00011252.1 ENSG00000157131.6 120950 "C8 deficiency, type I (2)" IPI00012912.1 ENSG00000157184.2 600650 "CPT deficiency, hepatic, type II, 600649 (3)" IPI00017601.1 ENSG00000047457.4 117700 "[Hypoceruloplasminemia, hereditary] (1)" IPI00025803.1 ENSG00000171105.4 147670 "Diabetes mellitus, insulin-resistant, with acanthosis nigricans (3)" IPI00295339.1 ENSG00000174175.5 173610 Platelet alpha/delta storage pool deficiency (1) IPI00006160.1 ENSG00000078900.4 601990 Neuroblastoma (1) (?) IPI00000878.1 ENSG00000135605.2 148500 Tylosis with esophageal cancer (2) IPI00010894.1 ENSG00000112041.2 602280 "Retinitis pigmentosa-14, 600132 (3)" IPI00025428.1 ENSG00000069399.2 109560 "Leukemia/lymphoma, B-cell, 3 (2)" IPI00022391.1 ENSG00000132703.1 104770 "?Amyloidosis, secondary, susceptibility to (1)" IPI00218559.1 ENSG00000102683.1 253700 "Muscular dystrophy, limb-girdle, type 2C (3)" IPI00018901.1 ENSG00000100031.6 231950 Glutathioninuria (1) IPI00017480.1 ENSG00000164690.1 600725 "Holoprosencephaly-3, 142945 (3)" IPI00003807.1 ENSG00000134575.1 171650 Lysosomal acid phosphatase deficiency (1) (?) IPI00032258.2 ENSG00000166308.3 120820 C4 deficiency (3) IPI00016450.1 ENSG00000166828.1 600761 "Pseudohypoaldosteronism, type I, 264350 (3)" IPI00006608.1 ENSG00000142192.6 104760 "Alzheimer disease-1, APP-related (3)" IPI00017648.1 ENSG00000115850.1 223000 "Lactase deficiency, adult, 223100 (1) (?)" IPI00005040.1 ENSG00000117054.1 201450 "Acyl-CoA dehydrogenase, medium chain, deficiency of (3)" IPI00296176.1 ENSG00000101981.1 306900 Hemophilia B (3) IPI00019088.1 ENSG00000049089.3 120260 "Epiphyseal dysplasia, multiple, type 2, 600204 (3)" IPI00025418.1 ENSG00000114270.6 120120 "Epidermolysis bullosa dystrophica, recessive, 226600 (3)" IPI00013928.1 ENSG00000112619.1 179605 Macular dystrophy (3) IPI00020966.1 ENSG00000165195.3 311770 Paroxysmal nocturnal hemoglobinuria (3) IPI00000158.1 ENSG00000101200.2 192340 "Diabetes insipidus, neurohypophyseal, 125700 (3)" IPI00021828.1 ENSG00000160213.2 601145 "Epilepsy, progressive myoclonic 1, 254800 (3)" IPI00012391.1 ENSG00000134982.2 175100 Colorectal cancer (3) IPI00018219.1 ENSG00000120708.3 601692 Reis-Bucklers corneal dystrophy (3) IPI00218413.1 ENSG00000169814.3 253260 Biotinidase deficiency (3) IPI00009867.1 ENSG00000170477.4 123940 "White sponge nevus, 193900 (3)" IPI00021033.1 ENSG00000168542.5 120180 "Fibromuscular dysplasia of arteries, 135580 (3)" IPI00021841.1 ENSG00000118137.2 107680 "Amyloidosis, 3 or more types (3)" IPI00016424.1 ENSG00000091010.1 602460 "Deafness, autosomal dominant 15, 602459 (3)" IPI00219358.1 ENSG00000178802.6 154550 "Carbohydrate-deficient glycoprotein syndrome, type Ib, 602579 (3)" IPI00011283.1 ENSG00000112112.7 120290 "OSMED syndrome, 215150 (3)" IPI00032258.2 ENSG00000166308.3 120810 C4 deficiency (3) IPI00291364.1 ENSG00000163161.2 133510 Trichothiodystrophy (3) IPI00030363.1 ENSG00000075239.4 203750 3-ketothiolase deficiency (3) IPI00027174.1 ENSG00000068078.5 134934 "Craniosynostosis, nonsyndromic (3)" IPI00003933.1 ENSG00000063854.1 138760 [Glyoxalase II deficiency] (1) IPI00029250.1 ENSG00000116745.3 180069 "Leber congenital amaurosis-2, 204100 (3)" IPI00029250.1 ENSG00000116745.3 180069 Retinitis pigmentosa-20 (3) IPI00025880.1 ENSG00000092054.5 160760 "Cardiomyopathy, familial hypertrophic, 1, 192600 (3)" IPI00011565.1 ENSG00000145888.3 138491 "Startle disease/hyperekplexia, autosomal dominant, 149400 (3)" IPI00026262.1 ENSG00000145715.2 139150 Basal cell carcinoma (3) IPI00019576.1 ENSG00000126218.1 227600 Factor X deficiency (3) IPI00220327.1 ENSG00000167768.1 139350 "Epidermolytic hyperkeratosis, 113800 (3)" IPI00032291.1 ENSG00000106804.1 120900 C5 deficiency (1) IPI00032038.1 ENSG00000110090.2 600528 "CPT deficiency, hepatic, type I, 255120 (1)" IPI00021772.1 ENSG00000151224.2 250850 "Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency (3)" IPI00216136.1 ENSG00000138030.3 229800 [Fructosuria] (1) IPI00218407.1 ENSG00000136872.5 229600 Fructose intolerance (3) IPI00010706.1 ENSG00000100983.1 601002 "Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)" IPI00292071.1 ENSG00000104112.1 253700 "Muscular dystrophy, limb-girdle, type 2C (3)" IPI00021891.3 ENSG00000171557.6 134850 "Hypofibrinogenemia, gamma type (3)" IPI00029250.1 ENSG00000116745.3 180069 "Retinal dystrophy, autosomal recessive, childhood-onset (3)" IPI00003905.1 ENSG00000163581.3 138160 "Diabetes mellitus, noninsulin-dependent (3)" IPI00017648.1 ENSG00000115850.1 223000 "Lactase deficiency, congenital (1) (?)" IPI00217439.1 ENSG00000140326.4 224120 "Dyserythropoietic anemia, contenital, type I (2)" IPI00021353.1 ENSG00000130561.4 181031 "Oguchi disease-1, 258100 (3)" IPI00257882.1 ENSG00000124299.3 170100 Prolidase deficiency (3) IPI00027497.2 ENSG00000105220.3 172400 Hemolytic anemia due to glucosephosphate isomerase deficiency (3) IPI00000230.1 ENSG00000140416.6 191010 "Cardiomyopathy, familial hypertrophic, 3, 115196 (3)" IPI00031425.1 ENSG00000084110.3 235800 [Histidinemia] (1) IPI00022296.1 ENSG00000157404.3 164920 Mast cell leukemia (3) IPI00152302.1 ENSG00000130076.7 147020 "Agammaglobulinemia, 601495 (3)" IPI00006173.1 ENSG00000087237.2 118470 [CETP deficiency] (3) IPI00011685.1 ENSG00000123500.2 120110 "Metaphyseal chondrodysplasia, Schmid type (3)" IPI00001400.1 ENSG00000096996.5 601604 "Mycobacterial and salmonella infections, susceptibility to (3)" IPI00164623.2 ENSG00000125730.3 120700 C3 deficiency (3) IPI00029132.1 ENSG00000010671.4 300300 "Agammaglobulinemia, type 1, X-linked (3)" IPI00022432.1 ENSG00000118271.1 176300 "Amyloidosis, senile systemic (3)" IPI00220741.1 ENSG00000163554.2 182860 Pyropoikilocytosis (3) IPI00003951.1 ENSG00000053747.4 600805 "Epidermolysis bullosa, junctional, Herlitz type (3)" IPI00022434.1 ENSG00000163631.4 103600 [Dysalbuminemic hyperthyroxinemia] (3) IPI00013928.1 ENSG00000112619.1 179605 "Butterfly dystrophy, retinal (3)" IPI00006608.1 ENSG00000142192.6 104760 "Schizophrenia, chronic (3)" IPI00021070.1 ENSG00000116701.5 233710 Chronic granulomatous disease due to deficiency of NCF-2 (1) IPI00019359.1 ENSG00000171403.2 144200 Epidermolytic palmoplantar keratoderma (3) IPI00015911.1 ENSG00000091140.1 246900 Lipoamide dehydrogenase deficiency (3) IPI00029728.1 ENSG00000104884.4 126340 "Xeroderma pigmentosum, group D, 278730 (3)" IPI00029739.1 ENSG00000000971.4 134370 Membroproliferative glomerulonephritis (1) IPI00018342.2 ENSG00000106992.6 103000 Hemolytic anemia due to adenylate kinase deficiency (3) IPI00008867.1 ENSG00000111713.1 138571 "Glycogen synthase, liver, deficiency of, 240600 (1)" IPI00218488.1 ENSG00000114349.1 139330 "Night blindness, congenital stationary (3)" IPI00012391.1 ENSG00000134982.2 175100 Gardner syndrome (3) IPI00029268.1 ENSG00000138079.2 104614 "Cystinuria, 220100 (3)" IPI00178741.1 ENSG00000130076.7 147020 "Agammaglobulinemia, 601495 (3)" IPI00029819.3 ENSG00000074181.1 600276 "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3)" IPI00025087.1 ENSG00000141510.2 191170 "Colorectal cancer, 114500 (3)" IPI00022229.1 ENSG00000084674.2 107730 "Apolipoprotein B-100, ligand-defective (3)" IPI00022443.1 ENSG00000081051.1 104150 "[AFP deficiency, congenital] (1)" IPI00218982.1 ENSG00000012048.6 113705 Ovarian cancer (3) IPI00020431.1 ENSG00000163513.5 190182 "Colorectal cancer, familial nonpolyposis, type 6 (3)" IPI00302829.1 ENSG00000139687.3 180200 "Bladder cancer, 109800 (3)" IPI00028627.1 ENSG00000104044.6 203200 "Albinism, ocular, autosomal recessive (3)" IPI00010360.1 ENSG00000169031.7 120070 "Alport syndrome, autosomal recessive, 203780 (3)" IPI00021856.1 ENSG00000130207.3 207750 "Hyperlipoproteinemia, type Ib (3)" IPI00299240.1 ENSG00000081248.2 114208 "Hypokalemic periodic paralysis, 170400 (3)" IPI00006663.1 ENSG00000111275.3 100650 "Alcohol intolerance, acute (3)" IPI00169383.1 ENSG00000102144.2 311800 Myoglobinuria/hemolysis due to PGK deficiency (3) IPI00021033.1 ENSG00000168542.5 120180 "Ehlers-Danlos syndrome, type III (3)" IPI00025418.1 ENSG00000114270.6 120120 "Epidermolysis bullosa, pretibial, 131850 (3)" IPI00220665.1 ENSG00000156515.8 142600 Hemolytic anemia due to hexokinase deficiency (3) IPI00298497.1 ENSG00000171564.1 134830 "Dysfibrinogenemia, beta type (3)" IPI00022432.1 ENSG00000118271.1 176300 [Dystransthyretinemic hyperthyroxinemia](3) IPI00018889.1 ENSG00000106571.2 165240 "Postaxial polydactyly type A1, 174200 (3)" IPI00025087.1 ENSG00000141510.2 191170 Li-Fraumeni syndrome (3) IPI00299026.1 ENSG00000179163.5 230000 Fucosidosis (3) IPI00006608.1 ENSG00000142192.6 104760 "Amyloidosis, cerebroarterial, Dutch type (3)" IPI00027730.1 ENSG00000147465.2 600617 "Lipoid adrenal hyperplasia, 201710 (3)" IPI00024934.1 ENSG00000146085.2 251000 "Methylmalonicaciduria, mutase deficiency type (3)" IPI00013193.1 ENSG00000137474.4 276903 "Deafness, autosomal recessive 2, neurosensory, 600060 (3)" IPI00032220.1 ENSG00000135744.1 106150 "Hypertension, essential, susceptibility to (3)" IPI00016450.1 ENSG00000166828.1 600761 "Liddle syndrome, 177200 (3)" IPI00032293.1 ENSG00000101439.1 105150 Cerebral amyloid angiopathy (3) IPI00028030.1 ENSG00000105664.1 600310 "Epiphyseal dysplasia, multiple 1, 132400 (3)" IPI00022420.2 ENSG00000138207.1 180250 "Retinol binding protein, deficiency of (1) (?)" IPI00303963.1 ENSG00000166278.3 217000 C2 deficiency (3) IPI00025803.1 ENSG00000171105.4 147670 Rabson-Mendenhall syndrome (3) IPI00292646.1 ENSG00000128683.3 266100 Pyridoxine dependency with seizures (1) (?) IPI00182933.1 ENSG00000166347.5 250790 Methemoglobinemia due to cytochrome b5 deficiency (3) IPI00293563.1 ENSG00000133256.2 180072 "Retinitis pigmentosa, autosomal recessive (3)" IPI00220109.1 ENSG00000085224.6 300032 "Alpha-thalassemia/mental retardation syndrome, type 2, 301040 (3)" IPI00023014.1 ENSG00000110799.4 193400 von Willebrand disease (3) IPI00022331.1 ENSG00000103080.1 245900 Fish-eye disease (3) IPI00019581.1 ENSG00000131187.2 234000 Factor XII deficiency (3) IPI00177398.1 ENSG00000173636.7 276000 "Pancreatitis, hereditary, 167800 (3)" IPI00220741.1 ENSG00000163554.2 182860 Elliptocytosis-2 (3) IPI00013914.1 ENSG00000166349.2 179615 "Severe combined immunodeficiency, B cell-negative, 601457 (3)" IPI00028030.1 ENSG00000105664.1 600310 "Pseudoachondroplasia, 177170 (3)" IPI00301907.1 ENSG00000159267.6 253270 "Multiple carboxylase deficiency, biotin-responsive (3)" IPI00217966.1 ENSG00000134333.1 150000 Exertional myoglobinuria due to deficiency of LDH-A (3) IPI00022361.1 ENSG00000004939.4 109270 "[Acanthocytosis, one form] (1)" IPI00301099.1 ENSG00000049540.5 130160 "Cutis laxa, 123700 (3)" IPI00018879.1 ENSG00000127415.3 252800 Mucopolysaccharidosis Ih (3) IPI00302829.1 ENSG00000139687.3 180200 Pinealoma with bilateral retinoblastoma (2) IPI00297550.1 ENSG00000124491.1 134570 Factor XIIIA deficiency (3) IPI00179358.1 ENSG00000171401.4 148065 "White sponge nevus, 193900 (3)" IPI00010706.1 ENSG00000100983.1 601002 "5-oxoprolinuria, 266130 (3)" IPI00018219.1 ENSG00000120708.3 601692 "Corneal dystrophy, Groenouw type I, 121900 (3)" IPI00011565.1 ENSG00000145888.3 138491 Hyperekplexia and spastic paraparesis (3) IPI00018219.1 ENSG00000120708.3 601692 "Corneal dystrophy, lattice type I, 122200 (3)" IPI00003905.1 ENSG00000163581.3 138160 "Fanconi-Bickel syndrome, 227810 (3)" IPI00303313.1 ENSG00000130635.5 120215 "Ehlers-Danlos syndrome, type I, 130000 (3)" IPI00298793.1 ENSG00000109323.1 248510 "Mannosidosis, beta- (3)" IPI00004247.1 ENSG00000067177.5 311870 Muscle glycogenosis (3) IPI00171678.1 ENSG00000123454.1 223360 Dopamine-beta-hydroxylase deficiency (1) IPI00027776.1 ENSG00000066926.2 177000 "Protoporphyria, erythropoietic, recessive, with liver failure (3)" IPI00009920.1 ENSG00000039537.3 217050 Combined C6/C7 deficiency (1) IPI00025803.1 ENSG00000171105.4 147670 Leprechaunism (3) IPI00219217.1 ENSG00000111716.4 150100 Lactate dehydrogenase-B deficiency (3) IPI00220802.1 ENSG00000164093.4 601542 "Rieger syndrome, type 1, 180500 (3)" IPI00027497.2 ENSG00000105220.3 172400 "Hydrops fetalis, one form (1)" IPI00013193.1 ENSG00000137474.4 276903 "Usher syndrome, type 1B (3)" IPI00022296.1 ENSG00000157404.3 164920 Mastocytosis with associated hematologic disorder (3) IPI00019439.1 ENSG00000138829.2 121050 "Contractural arachnodactyly, congenital (3)" IPI00022434.1 ENSG00000163631.4 103600 "[Dysalbuminemic hyperzincemia], 194470 (3)" IPI00028031.1 ENSG00000072778.6 201475 VLCAD deficiency (3) IPI00020961.1 ENSG00000171791.6 151430 "Leukemia/lymphoma, B-cell, 2 (2)" IPI00296078.1 ENSG00000104447.2 190350 "Trichorhinophalangeal syndrome, type I (2)" IPI00007207.1 ENSG00000107798.6 278000 Wolman disease (3) IPI00025418.1 ENSG00000114270.6 120120 "Epidermolysis bullosa dystrophica, dominant, 131750 (3)" IPI00302829.1 ENSG00000139687.3 180200 Retinoblastoma (3) IPI00177398.1 ENSG00000173636.7 276000 Trypsinogen deficiency (1) IPI00220267.1 ENSG00000169910.6 207900 Argininosuccinicaciduria (3) IPI00025864.1 ENSG00000114200.2 177400 "Apnea, postanesthetic (3)" IPI00010810.1 ENSG00000140374.5 231680 "Glutaricaciduria, type IIA (1)" IPI00218819.1 ENSG00000171401.4 148065 "White sponge nevus, 193900 (3)" IPI00021841.1 ENSG00000118137.2 107680 Hypoalphalipoproteinemia (3) IPI00021304.1 ENSG00000172867.2 600194 "Ichthyosis bullosa of Siemens, 146800 (3)" IPI00305022.1 ENSG00000180509.3 176261 "Jervell and Lange-Nielsen syndrome, 220400 (3)" IPI00022371.1 ENSG00000113905.1 142640 Thrombophilia due to elevated HRG (1) (?) IPI00013914.1 ENSG00000166349.2 179615 "Reticulosis, familial histiocytic, 267700 (3)" IPI00007247.1 ENSG00000114054.4 232050 "Propionicacidemia, type II or pccB type (3)" IPI00305166.1 ENSG00000073578.3 600857 Leigh syndrome (3) IPI00001560.1 ENSG00000147889.4 600160 "Melanoma, 155601 (3)" IPI00178926.1 ENSG00000132465.1 147790 "Leukemia, acute lymphocytic, with 4/11 translocation (3) (?)" IPI00161229.1 ENSG00000163245.3 147200 [Kappa light chain deficiency] (3) IPI00026904.1 ENSG00000100357.4 103050 "Autism, succinylpurinemic (3)" IPI00022348.1 ENSG00000140464.8 102578 "Leukemia, acute promyelocytic, PML/RARA type (3)" IPI00026904.1 ENSG00000100357.4 103050 Adenylosuccinase deficiency (1) IPI00244391.1 ENSG00000158125.2 278300 "Xanthinuria, type I (3)" IPI00008556.1 ENSG00000088926.2 264900 Factor XI deficiency (3) IPI00001519.1 ENSG00000126752.2 312820 "Sarcoma, synovial (3)" IPI00021891.3 ENSG00000171557.6 134850 "Dysfibrinogenemia, gamma type (3)" IPI00021033.1 ENSG00000168542.5 120180 "Ehlers-Danlos syndrome, type IV, 130050 (3)" IPI00168728.1 ENSG00000130076.7 147020 "Agammaglobulinemia, 601495 (3)" IPI00020896.1 ENSG00000047597.2 314850 McLeod phenotype (3) IPI00016862.1 ENSG00000104687.3 138300 Hemolytic anemia due to glutathione reductase deficiency (1) IPI00303868.1 ENSG00000104812.3 138570 "Non-insulin dependent diabetes mellitus, susceptibility to (2)" IPI00019912.1 ENSG00000133835.2 601860 D-bifunctional protein deficiency (3) IPI00022229.1 ENSG00000084674.2 107730 Hyperbetalipoproteinemia (3) IPI00027776.1 ENSG00000066926.2 177000 "Protoporphyria, erythropoietic (3)" IPI00021885.1 ENSG00000171560.2 134820 "Amyloidosis, hereditary renal, 105200 (3)" IPI00295976.1 ENSG00000005961.6 273800 "Thrombocytopenia, neonatal alloimmune (1)" IPI00022434.1 ENSG00000163631.4 103600 Analbuminemia (3) IPI00031708.1 ENSG00000103876.1 276700 "Tyrosinemia, type I (3)" IPI00019400.1 ENSG00000137364.2 187680 6-mercaptopurine sensitivity (3) IPI00218130.1 ENSG00000068976.2 232600 McArdle disease (3) IPI00012858.1 ENSG00000075043.7 602235 "Epilepsy, benign, neonatal, type 1, 121200 (3)" IPI00019568.1 ENSG00000180210.3 176930 Hypoprothrombinemia (3) IPI00298306.1 ENSG00000149311.3 208900 "T-cell prolymphocytic leukemia, sporadic (3)" IPI00018889.1 ENSG00000106571.2 165240 "Pallister-Hall syndrome, 146510 (3)" IPI00011283.1 ENSG00000112112.7 120290 "Stickler syndrome, type II, 184840 (3)" IPI00182655.1 ENSG00000170442.3 601928 "Monilethrix, 158000 (3)" IPI00027718.1 ENSG00000072840.3 225500 Ellis-van Creveld syndrome (2) IPI00027174.1 ENSG00000068078.5 134934 "Hypochondroplasia, 146000 (3)" IPI00009303.1 ENSG00000143390.6 601863 "Bare lymphocyte syndrome, complementation group C (1)" IPI00003983.1 ENSG00000010610.1 186940 "Lupus erythematosus, susceptibility to (2)" IPI00022229.1 ENSG00000084674.2 107730 Abetalipoproteinemia (3) IPI00218746.1 ENSG00000173369.5 120570 "C1q deficiency, type B (3)" IPI00013928.1 ENSG00000112619.1 179605 "Retinitis pigmentosa, digenic (3)" IPI00023051.1 ENSG00000109927.2 602574 "Deafness, autosomal dominant 8, 601543 (3)" IPI00302383.1 ENSG00000001626.4 602421 "Cystic fibrosis, 219700 (3)" IPI00019580.1 ENSG00000122194.4 173350 "Plasminogen deficiency, types I and II (1)" IPI00021033.1 ENSG00000168542.5 120180 "Aneurysm, familial, 100070 (3)" IPI00218414.1 ENSG00000104267.1 259730 Renal tubular acidosis-osteopetrosis syndrome (3) IPI00027492.1 ENSG00000131979.4 600225 "Dystonia, DOPA-responsive, 128230 (3)" IPI00029132.1 ENSG00000010671.4 300300 "XLA and isolated growth hormone deficiency, 307200 (3) (?)" IPI00216363.1 ENSG00000119535.7 138971 "Kostmann neutropenia, 202700 (3)" IPI00303575.1 ENSG00000170820.3 136435 "Ovarian dysgenesis, hypergonadotropic, with normal karyotype, 233300 (3)" IPI00220741.1 ENSG00000163554.2 182860 "Spherocytosis, recessive (3)" IPI00022793.1 ENSG00000138029.3 143450 "Trifunctional protein deficiency, type II (3)" IPI00302383.1 ENSG00000001626.4 602421 Sweat chloride elevation without CF (3) IPI00299240.1 ENSG00000081248.2 114208 "Malignant hyperthermia susceptibility 5, 601887 (3)" IPI00017601.1 ENSG00000047457.4 117700 "Hemosiderosis, systemic, due to aceruloplasminemia (3)" IPI00019580.1 ENSG00000122194.4 173350 Plasminogen Tochigi disease (3) IPI00299615.1 ENSG00000138039.3 152790 Leydig cell hypoplasia (3) IPI00022229.1 ENSG00000084674.2 107730 Hypobetalipoproteinemia (3) IPI00008787.1 ENSG00000108784.1 252920 "Sanfilippo syndrome, type B (3)" IPI00021885.1 ENSG00000171560.2 134820 "Dysfibrinogenemia, alpha type, causing bleeding diathesis (3)" IPI00012035.1 ENSG00000117335.7 120920 "Measles, susceptibility to (1)" IPI00022432.1 ENSG00000118271.1 176300 "Amyloid neuropathy, familial, several allelic types (3)" IPI00218733.1 ENSG00000142168.3 147450 "Amytrophic lateral sclerosis, due to SOD1 deficiency, 105400 (3)" IPI00329033.1 ENSG00000007933.2 136132 "[Fish-odor syndrome], 602079 (3)" IPI00020431.1 ENSG00000163513.5 190182 Colon cancer (3) IPI00298860.1 ENSG00000012223.2 150210 "Lactoferrin-deficient neutrophils, 245480 (1) (?)" IPI00298306.1 ENSG00000149311.3 208900 Ataxia-telangiectasia (3) IPI00071509.1 ENSG00000081277.3 601975 Ectodermal dysplasia/skin fragility syndrome (3) IPI00009367.1 ENSG00000172482.1 259900 "Hyperoxaluria, primary, type 1 (3)" IPI00008577.1 ENSG00000104899.1 600957 "Persistent Mullerian duct syndrome, type I, 261550 (3)" IPI00022361.1 ENSG00000004939.4 109270 Hemolytic anemia due to band 3 defect (3) IPI00218982.1 ENSG00000012048.6 113705 Breast cancer-1 (3) IPI00296645.1 ENSG00000138823.2 157147 "Abetalipoproteinemia, 200100 (3)" IPI00220327.1 ENSG00000167768.1 139350 "Keratoderma, palmoplantar, nonepidermolytic (3)" IPI00012391.1 ENSG00000134982.2 175100 "Turcot syndrome, 276300 (3)" IPI00017567.1 ENSG00000106991.2 131195 "Hereditary hemorrhagic telangiectasia-1, 187300 (3)" IPI00302383.1 ENSG00000001626.4 602421 "Congenital bilateral absence of vas deferens, 277180 (3)" IPI00306576.1 ENSG00000113273.4 253200 "Maroteaux-Lamy syndrome, several forms (3)" IPI00027692.1 ENSG00000137561.2 600415 "Ataxia with isolated vitamin E deficiency, 277460 (3)" IPI00012048.1 ENSG00000011052.5 156490 Neuroblastoma (3) IPI00019580.1 ENSG00000122194.4 173350 "Thrombophilia, dysplasminogenemic (1)" IPI00029739.1 ENSG00000000971.4 134370 "Hemolytic-uremic syndrome, 235400 (3)" IPI00006092.1 ENSG00000140650.3 601785 "Carbohydrate-deficient glycoprotein syndrome, type I, 212065 (3)" IPI00298306.1 ENSG00000149311.3 208900 "B-cell non-Hodgkin lymphoma, sporadic (3)" IPI00290189.1 ENSG00000140463.3 600374 Bardet-Biedl syndrome 4 (2) IPI00021841.1 ENSG00000118137.2 107680 "ApoA-I and apoC-III deficiency, combined (3)" IPI00297183.1 ENSG00000130076.7 147020 "Agammaglobulinemia, 601495 (3)" IPI00216057.1 ENSG00000140263.2 182500 "Cataract, congenital (2) (?)" IPI00329700.1 ENSG00000059377.6 274180 Thromboxane synthase deficiency (2) IPI00218767.1 ENSG00000106633.6 138079 "MODY, type 2, 125851 (3)" IPI00022443.1 ENSG00000081051.1 104150 [Hereditary persistence of alpha-fetoprotein] (3) IPI00302829.1 ENSG00000139687.3 180200 "Osteosarcoma, 259500 (2)" IPI00239117.1 ENSG00000170927.5 263200 "Polycystic kidney disease, autosomal recessive (2)" IPI00294395.1 ENSG00000021852.3 120960 "C8 deficiency, type II (3)" IPI00021817.1 ENSG00000115718.5 176860 "Purpura fulminans, neonatal (1)" IPI00009920.1 ENSG00000039537.3 217050 C6 deficiency (1) IPI00022394.2 ENSG00000159189.3 120575 "C1q deficiency, type C (3)" IPI00291997.1 ENSG00000104313.4 601653 "Branchiootorenal syndrome, 113650 (3)" IPI00299402.1 ENSG00000173599.5 266150 Pyruvate carboxylase deficiency (3) IPI00027165.1 ENSG00000143627.6 266200 "Anemia, hemolytic, due to PK deficiency (3)" IPI00032257.1 ENSG00000125730.3 120700 C3 deficiency (3) IPI00013928.1 ENSG00000112619.1 179605 Retinitis punctata albescens (3) IPI00218571.1 ENSG00000102893.3 172490 "Phosphorylase kinase deficiency of liver and muscle, 261750 (2) (?)" IPI00018879.1 ENSG00000127415.3 252800 Mucopolysaccharidosis Ih/s (3) IPI00022463.1 ENSG00000091513.4 190000 Atransferrinemia (1) IPI00007240.1 ENSG00000143278.1 134580 Factor XIIIB deficiency (3) IPI00026314.1 ENSG00000148180.3 137350 "Amyloidosis, Finnish type, 105120 (3)" IPI00007244.1 ENSG00000005381.2 254600 Myeloperoxidase deficiency (3) IPI00021841.1 ENSG00000118137.2 107680 "Corneal clouding, autosomal recessive (3)" IPI00025880.1 ENSG00000092054.5 160760 "Central core disease, one form (3) (?)" IPI00005543.1 ENSG00000122512.3 600259 "Turcot syndrome with glioblastoma, 276300 (3)" IPI00023051.1 ENSG00000109927.2 602574 "Deafness, autosomal dominant 12, 601842 (3)" IPI00006663.1 ENSG00000111275.3 100650 ?Fetal alcohol syndrome (1) IPI00005543.1 ENSG00000122512.3 600259 "Colorectal cancer, hereditary nonpolyposis, type 4 (3)" IPI00299615.1 ENSG00000138039.3 152790 "Precocious puberty, male, 176410 (3)" IPI00291136.1 ENSG00000142156.4 120220 "Bethlem myopathy, 158810 (3)" IPI00026580.1 ENSG00000046651.4 311200 Oral-facial-digital syndrome 1 (2) IPI00007207.1 ENSG00000107798.6 278000 Cholesteryl ester storage disease (3) IPI00021857.1 ENSG00000110245.2 107720 Hypertriglyceridemia (3) IPI00021364.1 ENSG00000126759.3 312060 "Properdin deficiency, X-linked (3)" IPI00020366.1 ENSG00000102174.2 307800 "Hypophosphatemia, hereditary (3)" IPI00011565.1 ENSG00000145888.3 138491 "Startle disease, autosomal recessive (3)" IPI00019190.1 ENSG00000034971.3 601652 "Glaucoma 1A, primary open angle, juvenile-onset, 137750 (3)" IPI00293769.1 ENSG00000116984.2 156570 "Methylcobalamin deficiency, cbl G type (3)" IPI00107754.1 ENSG00000114062.4 601623 Angelman syndrome (3) IPI00291364.1 ENSG00000163161.2 133510 "Xeroderma pigmentosum, group B (3)" IPI00028627.1 ENSG00000104044.6 203200 "Albinism, oculocutaneous, type II (3)" IPI00218767.1 ENSG00000106633.6 138079 "Hyperinsulinism, familial, 602485 (3)" IPI00022361.1 ENSG00000004939.4 109270 "[Elliptocytosis, Malaysian-Melanesian type] (3)" IPI00018889.1 ENSG00000106571.2 165240 "Greig cephalopolysyndactyly syndrome, 175700 (3)" IPI00028493.1 ENSG00000103197.5 191092 Tuberous sclerosis-2 (3) | |
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