From: Genetics and functions of the retinoic acid pathway, with special emphasis on the eye
Gene | Diseases linked to mutations in gene | OMIM reference number | Probability loss-of-function (pLOF) allele counts | Number of individuals homozygote for a pLOF allele | pLI |
---|---|---|---|---|---|
ADH1 | Fetal alcohol syndrome (ADH1A) [86]; increased alcohol sensitivity (ADH1B) [87]; ethanol-induced; cutaneous erythema [88] | 103700 and 103720 and 103730 | 131 | 1 | 0 |
ADH7 | Â | 600086 | 106 | 1 | 0 |
ALDH1A1 | 100640 | 6 | 0 | 0.95 | |
ALDH1A2 | Â | 603687 | 20 | 0 | 0.36 |
ALDH1A3 | 600463 | 53 | 0 | 0.14 | |
ALDH1B1 | Â | 100670 | > 3000 | 71 | 0 |
ALDH8A1 | Â | 606467 | 49 | 0 | 0 |
CYP1B1 | Primary congenital glaucoma [91, 92]; Juvenile/Adult POAG [93]; Peters Anomaly [94] | 601771 | 235 | 0 | 0 |
CYP26A1 | Decreased metabolism of ATRA (cell culture) [95] | 602239 | 45 | 0 | 0 |
CYP26B1 | Radiohumeral fusions and other skeletal and craniofacial anomalies [96] | 605207 | 90 | 0 | 0.98 |
CYP26C1 | Focal facial dermal dysplasia [97] | 608428 | 663 | 1 | 0 |
CRABP1 | Upregulation of CRABP1 contributes to retinoid resistance in leukemia [98] | 180230 | 10 | 0 | 0.01 |
CRABP2 | Â | 180231 | 73 | 0 | 0.00 |
FABP5 | Increased in psoriatic skin lesions [99] | 605168 | 13 | 0 | 0.05 |
RARA | ~ Acute promyelocytic leukemia (APL) during gain of function/translocation [100] | 180240 | 75 | 2 | 0.96 |
RARB | Premalignant oral lesions, microphthalmia, diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities [76, 82] | 180220 | 11 | 0 | 1.00 |
RARG | ~ APL during gain of function/translocation [101] | 180190 | 48 | 0 | 0.99 |
RBP4 | Micropthalmia, anophthalmia, coloboma (MAC) [73, 74], night blindness and retinal dystrophy [102] | 180250 | 8 | 0 | 0.52 |
RDH5 | 601617 | 109 | 0 | 0 | |
RDH10 | Â | 607599 | 2 | 0 | 0.99 |
RXRA | Â | 180245 | 0 | 0 | 1.00 |
RXRB | Â | 180246 | 20 | 0 | 1.00 |
RXRG | Â | 180247 | 6 | 0 | 0.42 |
STRA6 | 610745 | 265 | 4 | 0 |