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XIAP
CRTC1
MYO7A
MYBPC3
VIM
ABHD5
UROS
CDH1
UMOD
CACNB4
TPM1
TCF7L2
ALDH3A2
SHH
TPCN2
PDE6B
CUL7
XBP1
APOE
BAG3
VNN1
PITX3
DNAJC19
ERCC2
AKT2
EIF2B5
MATN3
MYO6
NODAL
SECISBP2
EPHX1
NR0B2
UCP1
MYH9
UBE2B
COL5A1
ABCB4
FOXP2
TRNT1
SMO
NPC1
MPI
GBE1
H6PD
SLC25A38
GNAS
PTCH1
BIN1
eg.
GNAS
Filter by Human Disorder:
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Epilepsy, idiopathic generalized, susceptibility to, 9
Diabetes mellitus, type 2, susceptibility to
Ehlers-Danlos syndrome, type I
Diabetes mellitus, type II
Lipoprotein glomerulopathy
Osteoarthritis susceptibility 2
Porphyria, congenital erythropoietic
Macrothrombocytopenia and progressive sensorineural deafness
Cataract, pulverulent, autosomal dominant
Ehlers-Danlos syndrome, type II
Glycogen storage disease IV
Hypercholanemia, familial
McCune-Albright syndrome
Episodic ataxia, type 5
Trichothiodystrophy
Liver failure, acute infantile
Heterotaxy, visceral, 5
Xeroderma pigmentosum, group D
Deafness, autosomal dominant 11, neurosensory
Cerebrooculofacioskeletal syndrome 2
Deafness, autosomal recessive 2, neurosensory
Ovarian carcinoma, somatic
Pseudohypoparathyroidism Ic
Pseudohypoparathyroidism Ib
Pseudohypoparathyroidism Ia
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
3-methylglutaconic aciduria, type V
Usher syndrome, type 1B
Sjogren-Larsson syndrome
Myopathy, centronuclear, autosomal recessive
Prolonged bleeding time, brachydactyly and mental retardation
Fechtner syndrome
Mucoepidermoid salivary gland carcinoma
Basal cell nevus syndrome
Holoprosencephaly-7
Coloboma, ocular
Holoprosencephaly-3
Osseous heteroplasia, progressive
Gallbladder disease 1
Skin/hair/eye pigmentation 10, blond/brown hair
Retinitis pigmentosa-40
Deafness, autosomal dominant 22
Cataract, posterior polar, 4
Deafness, autosomal dominant 17
Epstein syndrome
Cataract, congenital
Speech-language disorder-1
Epilepsy, juvenile myoclonic, susceptibility to, 6
High density lipoprotein cholesterol level QTL 8
Hyperuricemic nephropathy, familial juvenile 1
Niemann-Pick disease, type D
Ovarioleukodystrophy
Night blindness, congenital stationary, autosomal dominant 2
Myocardial infarction susceptibility
Cholestasis, progressive familial intrahepatic 3
Deafness, autosomal recessive 37
Nasopharyngeal carcinoma 1
Medullary cystic kidney disease 2
Epiphyseal dysplasia, multiple, 5
May-Hegglin anomaly
Thyroid hormone metabolism, abnormal
Cardiomyopathy, dilated
Acromegaly
Cortisone reductase deficiency
Sebastian syndrome
Basal cell carcinoma, somatic
Major affective disorder-7, susceptibility to
Prostate cancer, susceptibility to
Diphenylhydantoin toxicity
Microphthalmia with coloboma 5
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Solitary median maxillary central incisor
Pseudopseudohypoparathyroidism
Endometrial carcinoma, somatic
Niemann-Pick disease, type C1
Obesity, mild, early-onset
Hyperlipoproteinemia, type III
Anterior segment mesenchymal dysgenesis
Fetal hydantoin syndrome
Cholestasis, familial intrahepatic, of pregnancy
Gastric cancer, familial diffuse, with or without cleft lip and/or palate
3-M syndrome
Alzheimer disease-2
Cataract, posterior polar, 4, syndromic
Chanarin-Dorfman syndrome
Sea-blue histiocyte disease
Cardiomyopathy, dilated, 1Y
Spondyloepimetaphyseal dysplasia
Lymphoproliferative syndrome, X-linked, 2
Obesity, susceptibility to
Leukoencephalopathy with vanishing white matter
Congenital disorder of glycosylation, type Ib
Breast cancer, lobular
Macular degeneration, age-related
Deafness, mitochondrial, modifier of
Preeclampsia, susceptibility to
Male infertility
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
Cardiomyopathy, familial hypertrophic, 3
Cardiomyopathy, familial hypertrophic, 4
Myopathy, myofibrillar, BAG3-related
eg.
diabetes
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